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mucopolysaccharidosis type 2

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.

Synonyms

  • Hunter syndrome
  • Hunter's syndrome
  • I2S deficiency
  • IDS deficiency
  • MPS 2
  • MPS II
  • MPS II - Hunter syndrome
  • MPS with skin involvement
  • MPS2
  • MPSII
  • Mucopolysaccharidosis Type II
  • SIDS deficiency
  • attenuated MPS (subtype; formerly known as mild MPS II)
  • deficiency of iduronate-2-sulphatase
  • iduronate 2-sulfatase deficiency
  • mucopolysaccharidosis II
  • mucopolysaccharidosis II, X-linked recessive
  • mucopolysaccharidosis type 2
  • mucopolysaccharidosis type II
  • mucopolysaccharidosis with skin involvement
  • mucopolysaccharidosis, MPS-II
  • mucopolysaccharidosis, type 2
  • mucopolysaccharidosis, type II
  • severe MPS II
  • sulfoiduronate sulfatase deficiency
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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